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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 13419

FusionGeneSummary for FGFR3_MLLT10

check button Fusion gene summary
Fusion gene informationFusion gene name: FGFR3_MLLT10
Fusion gene ID: 13419
HgeneTgene
Gene symbol

FGFR3

MLLT10

Gene ID

2261

8028

Gene namefibroblast growth factor receptor 3MLLT10, histone lysine methyltransferase DOT1L cofactor
SynonymsACH|CD333|CEK2|HSFGFR3EX|JTK4AF10
Cytomap

4p16.3

10p12.31

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor 3FGFR-3fibroblast growth factor receptor 3 variant 4hydroxyaryl-protein kinasetyrosine kinase JTK4protein AF-10ALL1-fused gene from chromosome 10 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10type I AF10 proteintype III AF10 prot
Modification date2018052320180522
UniProtAcc

P22607

P55197

Ensembl transtripts involved in fusion geneENST00000481110, ENST00000440486, 
ENST00000412135, ENST00000340107, 
ENST00000260795, ENST00000352904, 
ENST00000474521, 		ENST00000446906, 
ENST00000377072, ENST00000307729, 
ENST00000377059, ENST00000495130, 
ENST00000377100, ENST00000377091, 
Fusion gene scores* DoF score7 X 9 X 14=8825 X 15 X 3=225
# samples 4520
** MAII scorelog2(45/882*10)=-0.970853654340483
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/225*10)=-0.169925001442312
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGFR3 [Title/Abstract] AND MLLT10 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFGFR3

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044

HgeneFGFR3

GO:0018108

peptidyl-tyrosine phosphorylation

11294897

HgeneFGFR3

GO:0046777

protein autophosphorylation

11294897

TgeneMLLT10

GO:0045944

positive regulation of transcription by RNA polymerase II

17868029


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-24-1474-01AFGFR3chr4

1807631

+MLLT10chr10

22028959

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000481110ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+

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FusionProtFeatures for FGFR3_MLLT10


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FGFR3

P22607

MLLT10

P55197

Tyrosine-protein kinase that acts as cell-surfacereceptor for fibroblast growth factors and plays an essential rolein the regulation of cell proliferation, differentiation andapoptosis. Plays an essential role in the regulation ofchondrocyte differentiation, proliferation and apoptosis, and isrequired for normal skeleton development. Regulates bothosteogenesis and postnatal bone mineralization by osteoblasts.Promotes apoptosis in chondrocytes, but can also promote cancercell proliferation. Required for normal development of the innerear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads tothe activation of several signaling cascades. Activation of PLCG1leads to the production of the cellular signaling moleculesdiacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylationof FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, andmediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAPkinase signaling pathway, as well as of the AKT1 signalingpathway. Plays a role in the regulation of vitamin D metabolism.Mutations that lead to constitutive kinase activation or impairnormal FGFR3 maturation, internalization and degradation lead toaberrant signaling. Over-expressed or constitutively activatedFGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A andSTAT5B. Secreted isoform 3 retains its capacity to bind FGF1 andFGF2 and hence may interfere with FGF signaling.{ECO:0000269|PubMed:10611230, ECO:0000269|PubMed:11294897,ECO:0000269|PubMed:11703096, ECO:0000269|PubMed:14534538,ECO:0000269|PubMed:16410555, ECO:0000269|PubMed:16597617,ECO:0000269|PubMed:17145761, ECO:0000269|PubMed:17311277,ECO:0000269|PubMed:17509076, ECO:0000269|PubMed:17561467,ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:19286672,ECO:0000269|PubMed:8663044}. Probably involved in transcriptional regulation. Invitro or as fusion protein with KMT2A/MLL1 has transactivationactivity. Binds to cruciform DNA. In cells, binding to unmodifiedhistone H3 regulates DOT1L functions including histone H3 'Lys-79'dimethylation (H3K79me2) and gene activation (PubMed:26439302).{ECO:0000269|PubMed:17868029, ECO:0000269|PubMed:26439302}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for FGFR3_MLLT10


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for FGFR3_MLLT10


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
FGFR3C6orf47, SMG7, BORA, CCDC17, HBZ, HNRNPL, NDUFS6, RNF130, ATF3, ARAP1, CHGB, CTSK, RADIL, GTF3C1, KRT8, POLA2, KIAA1377, RPL8, SLC25A6, SH2B1, FGF9, FGF1, GRB2, FGF8, HSP90AA1, HSP90AB1, HSPA1B, HSPA8, CDC37, HSPA4, SOCS1, SOCS3, FGFR3, SNX11, TMEM231, ILKAP, SRPK2, PVRL1, BRD4, VHL, FNTA, CDK6, FGFR2, TMEM30B, ARRDC3, SDC2MLLT10YEATS4, SMARCB1, SS18, MLLT10, DOT1L, MLLT1, MLLT3, AFF1, DISC1, NDEL1, ELAVL1, CENPJ, TMPO, ZNF526, MLLT6, TCP10L, KIF6, PMF1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for FGFR3_MLLT10


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFGFR3P22607DB00039PaliferminFibroblast growth factor receptor 3biotechapproved
HgeneFGFR3P22607DB06589PazopanibFibroblast growth factor receptor 3small moleculeapproved
HgeneFGFR3P22607DB09079NintedanibFibroblast growth factor receptor 3small moleculeapproved
HgeneFGFR3P22607DB08901PonatinibFibroblast growth factor receptor 3small moleculeapproved|investigational
HgeneFGFR3P22607DB09078LenvatinibFibroblast growth factor receptor 3small moleculeapproved|investigational

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RelatedDiseases for FGFR3_MLLT10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFGFR3C0022603Seborrheic keratosis21UNIPROT
HgeneFGFR3C0001080Achondroplasia8CTD_human;ORPHANET;UNIPROT
HgeneFGFR3C0410529Hypochondroplasia (disorder)8CTD_human;ORPHANET;UNIPROT
HgeneFGFR3C0334082NEVUS, EPIDERMAL (disorder)7CTD_human;UNIPROT
HgeneFGFR3C0005695Bladder Neoplasm4CTD_human
HgeneFGFR3C1864436Muenke Syndrome4CTD_human;ORPHANET;UNIPROT
HgeneFGFR3C0005684Malignant neoplasm of urinary bladder3UNIPROT
HgeneFGFR3C2677099CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)3CTD_human;ORPHANET;UNIPROT
HgeneFGFR3C0007138Carcinoma, Transitional Cell1CTD_human
HgeneFGFR3C0008924Cleft Lip1CTD_human
HgeneFGFR3C0008925Cleft Palate1CTD_human
HgeneFGFR3C0026764Multiple Myeloma1CTD_human
HgeneFGFR3C0036631Seminoma1CTD_human
HgeneFGFR3C0039743Thanatophoric Dysplasia1CTD_human
HgeneFGFR3C0265269Lacrimoauriculodentodigital syndrome1CTD_human;ORPHANET;UNIPROT
HgeneFGFR3C1864852CATSHL syndrome1CTD_human;ORPHANET;UNIPROT
TgeneMLLT10C0007134Renal Cell Carcinoma1CTD_human
TgeneMLLT10C0025202melanoma1CTD_human
TgeneMLLT10C0025286Meningioma1CTD_human